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Abstract：
PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births. Chorioretinal lacunae feature alongside agenesis of the corpus callosum and spasms in flexion to make up a diagnostic triad. Recently ophthalmic findings such as microphthalmia and optic disc anomalies have been recognised in association with Aicardi syndrome. This population study aims to determine the presence of ocular findings and identifies some novel associations in these patients.MethodsA retrospective review of charts for seven patients with Aicardi syndrome was carried out.ResultsThe incidence of Aicardi syndrome in Northern Ireland was found to be 1 in 110 000 live births. Four patients who had microphthalmus also had iris abnormalities; two patients with bilateral microphthalmus had partial aniridia and two patients with unilateral microphthalmus had iris coloboma in the same eye. Optic disc abnormalities were found in 11 eyes of six patients. Two patients were found to have areas of fibrovascular proliferation with a thickened white ridge and avascular zone beyond. Both of these patients developed retinal detachments.ConclusionsOur review of patients with Aicardi syndrome in Northern Ireland has revealed some novel clinical findings, including aniridia in two cases. We also found a higher than previously reported rate of excavated disc anomalies of 50% in our cohort. We found two cases of peripheral retinal dysplasia, which has not been previously reported. This finding was associated with microphthalmus and severe optic disc abnormalities, and we feel this warrants early EUA to enable early treatment and hopefully result in better visual prognosis.
摘要：
目的Aicardi综合征是一种罕见的疾病，影响10万例活产中的1例。脉络膜视网膜腔隙与call体发育不全和屈曲痉挛一起构成诊断三联征。最近，诸如小眼症和视盘异常之类的眼科发现已被认为与Aicardi综合征有关。这项人群研究旨在确定眼部发现的存在，并确定这些患者的一些新关联。方法对7例Aicardi综合征患者进行回顾性分析。结果北爱尔兰Aicardi综合征的发病率为11万例活产中的1例。四名患有小眼睛的患者也有虹膜异常；两名双侧小眼睛患者有部分无虹膜，两名单侧小眼睛患者在同一只眼中有虹膜缺损。在6例患者的11只眼中发现了视盘异常。发现两名患者的纤维血管增生区域，白色脊增厚，无血管区超出。这两名患者均出现视网膜脱离。结论我们对北爱尔兰Aicardi综合征患者的回顾揭示了一些新的临床发现，包括两种情况下的无虹膜。我们还发现，在我们的队列中，挖出的椎间盘异常率高于先前报道的50％。我们发现2例周边视网膜发育不良,以前没有报道过。这一发现与小眼和严重的视盘异常有关，我们认为这保证了早期EUA能够实现早期治疗,并有望导致更好的视觉预后.
